Canonical Allele Identifier: CA1599973

Gene: SRD5A2

Linked Data

• dbSNP Id: rs562449429
• ExAC: 2:31758830 A / C
• gnomAD v2: 2-31758830-A-C
• gnomAD v3: 2-31533760-A-C
• gnomAD v4: 2-31533760-A-C
• MyVariant Identifiers: chr2:g.31758830A>C (hg19) ; chr2:g.31533760A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533760A>C , CM000664.2:g.31533760A>C	GRCh38
NC_000002.11:g.31758830A>C , CM000664.1:g.31758830A>C	GRCh37
NC_000002.10:g.31612334A>C	NCBI36
NG_008365.1:g.52212T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.288T>G MANE Select	ENSP00000477587.1:p.Phe96Leu
ENST00000622030.1:c.288T>G	ENSP00000477587.1:p.Phe96Leu
NM_000348.3:c.288T>G	NP_000339.2:p.Phe96Leu
XM_011533068.1:c.288T>G	XP_011531370.1:p.Phe96Leu
XM_011533069.1:c.66T>G	XP_011531371.1:p.Phe22Leu
XM_011533070.1:c.33T>G	XP_011531372.1:p.Phe11Leu
XM_011533071.1:c.33T>G	XP_011531373.1:p.Phe11Leu
XM_011533072.1:c.33T>G	XP_011531374.1:p.Phe11Leu
XM_011533069.2:c.66T>G	XP_011531371.1:p.Phe22Leu
XM_011533072.2:c.33T>G	XP_011531374.1:p.Phe11Leu
NM_000348.4:c.288T>G MANE Select	NP_000339.2:p.Phe96Leu